Table of Contents Categories
  Encyclosphere.org ENCYCLOREADER
  supported by EncyclosphereKSF

GATAD2B-associated neurodevelopmental disorder

Topic: Medicine

 From HandWiki - Reading time: 2 min

GATAD2B-associated neurodevelopmental disorder
Other namesGAND
SpecialtyMedical genetics
Usual onsetBirth
DurationLife-long
CausesMutation in the GATAD2B gene.
Preventionnone
PrognosisMedium, nearing good
Frequencyvery rare, only 78 cases have been described in medical literature
Deaths-

GATAD2B-associated neurodevelopmental disorder is a rare genetic neurodevelopmental disorder which is characterized by severe intellectual disabilities, speech delays, hypotonia and facial dysmorphia.[1]

Signs and symptoms

The following is a list of all the symptoms:[2]

  • Moderate to severe intellectual disabilities
  • Speech delay
  • Macrocephaly
  • Childhood low muscle tone
  • Feeding problems
  • Variable cardiac anomalies
  • Facial dysmorphisms

Additional symptoms include polyhydramnios and epilepsy.[3]

Causes

This condition is caused by either (usually sporadic or de novo) alterations or a deletion of the GATAD2B gene, located in chromosome 1. In familial cases, inheritance is usually autosomal dominant.[4][5]

Epidemiology

78 cases have been described in medical literature.[6]

References

  1. ↑ Sensory 5. "GATAD2B-associated neurodevelopmental disorder | Rare Diseases" (in en). https://rareguru.com/library/disease/2465/gatad2b-associated-neurodevelopmental-disorder. 
  2. ↑ "GATAD2B-associated neurodevelopmental disorder" (in en-US). https://rarediseases.org/gard-rare-disease/gatad2b-associated-neurodevelopmental-disorder/. 
  3. ↑ Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P.G.; Lee, Hane; Douine, Emilie D. et al. (May 2020). "GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder". Genetics in Medicine 22 (5): 878–888. doi:10.1038/s41436-019-0747-z. ISSN 1098-3600. PMID 31949314. 
  4. ↑ "Helping Hands for GAND" (in en). https://www.gatad2b.org/. 
  5. ↑ "GATAD2B-associated neurodevelopmental disorder - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/12815/gatad2b-associated-neurodevelopmental-disorder. 
  6. ↑ Vera, Gabriella; Sorlin, Arthur; Delplancq, Geoffroy; Lecoquierre, François; Brasseur-Daudruy, Marie; Petit, Florence; Smol, Thomas; Ziegler, Alban et al. (2020-10-01). "Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)" (in en). European Journal of Medical Genetics 63 (10). doi:10.1016/j.ejmg.2020.104004. ISSN 1769-7212. PMID 32688057. https://hal.science/hal-02904491/file/S1769721220305073.pdf. 

Further reading

Unique - Rare Chromosome Disorder Support Group. (2022). GATAD2B-associated neurodevelopmental disorder (GAND)/GATAD2B syndrome. https://rarechromo.org/media/information/Chromosome%20%201/GATAD2B-associated%20neurodevelopmental%20disorder%20(GAND)%20GATAD2B%20syndromeQFN.pdf



Retrieved from "https://handwiki.org/wiki/index.php?title=Medicine:GATAD2B-associated_neurodevelopmental_disorder&oldid=4013645"
Licensed under CC BY-SA 3.0 | Source: https://handwiki.org/wiki/Medicine:GATAD2B-associated_neurodevelopmental_disorder
1 |
↧ Download this article as ZWI file
Encyclosphere.org EncycloReader is supported by the EncyclosphereKSF